• delete

NM_001287174.1(ABCC8):c.609G>A (p.Glu203=) AND Malignant melanoma

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000069275.2

Allele description

NM_001287174.1(ABCC8):c.609G>A (p.Glu203=)

Gene:
ABCC8:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001287174.1(ABCC8):c.609G>A (p.Glu203=)
HGVS:
  • NC_000011.10:g.17461796C>T
  • NG_008867.1:g.20107G>A
  • NM_000352.4:c.609G>A
  • NM_001287174.1:c.609G>A
  • NP_000343.2:p.Glu203=
  • NP_001274103.1:p.Glu203=
  • NC_000011.8:g.17439919C>T
  • NC_000011.9:g.17483343C>T
  • NM_000352.3:c.609G>A
  • NP_000343.2:p.Glu203Glu=
Links:
dbSNP: 267602802
NCBI 1000 Genomes Browser:
rs267602802
Molecular consequence:
  • NM_001287174.1:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Malignant melanoma
Synonyms:
Melanoma; Malignant melanoma, somatic
Identifiers:
MedGen: C0025202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000100864Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

32T

SCV000100864

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Samuels Laboratory; NHGRI/NIH, SCV000100864.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided132Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015